Variant report

Variant	rs13259464
Chromosome Location	chr8:86155928-86155929
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:86088395..86090323-chr8:86154916..86157479,2	K562	blood:

Variant related genes	Relation type
ENSG00000260493	Chromatin interaction
ENSG00000133740	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10090196	0.84[EUR][1000 genomes]
rs10106970	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1021583	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11261469	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11261471	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12541299	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12541445	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12543256	0.86[ASN][1000 genomes]
rs12546106	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12550160	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12679400	0.85[ASN][1000 genomes]
rs16913681	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16913721	0.86[EUR][1000 genomes]
rs17740658	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1845891	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1845892	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1908762	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2006767	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2132589	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2132590	0.86[ASN][1000 genomes]
rs2279700	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2279701	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2291786	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2403083	0.80[ASN][1000 genomes]
rs2403084	0.80[ASN][1000 genomes]
rs2403085	0.82[ASN][1000 genomes]
rs2403086	0.82[ASN][1000 genomes]
rs28377260	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28439950	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28564613	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28677919	0.80[EUR][1000 genomes]
rs3779901	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4150962	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4150964	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4150974	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4150977	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4609189	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4617148	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4739698	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4740045	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4740047	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6605610	0.92[ASN][1000 genomes]
rs6605611	0.92[ASN][1000 genomes]
rs6993316	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6994113	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7001359	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7004871	0.86[EUR][1000 genomes]
rs7011001	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7821629	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7827175	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7829240	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7839129	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9329908	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv971329	chr8:86094967-86183119	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1018483	chr8:86142258-86547831	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2761441	chr8:86155592-86167129	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs13259464	LRRCC1	cis	Esophagus Mucosa	GTEx
rs13259464	C8orf59	Cis_1M	lymphoblastoid	RTeQTL
rs13259464	LRRCC1	Cis_1M	lymphoblastoid	RTeQTL
rs13259464	LRRCC1	cis	Artery Tibial	GTEx

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86133800-86157200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:86134600-86157200	Weak transcription	Right Atrium	heart
3	chr8:86136000-86157200	Weak transcription	Liver	Liver
4	chr8:86136200-86157000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:86136400-86157000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:86139600-86157200	Weak transcription	Pancreas	Pancrea
7	chr8:86142600-86157200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:86143600-86157000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:86145000-86157200	Weak transcription	Ovary	ovary
10	chr8:86145600-86157400	Weak transcription	Brain Angular Gyrus	brain
11	chr8:86146200-86156400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:86146200-86157200	Weak transcription	Gastric	stomach
13	chr8:86148000-86157200	Weak transcription	Esophagus	oesophagus
14	chr8:86148200-86157200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:86149200-86157000	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr8:86152000-86157200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr8:86152400-86157200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr8:86152600-86157000	Weak transcription	Stomach Mucosa	stomach
19	chr8:86152800-86157200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:86153000-86157000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr8:86153200-86157000	Weak transcription	Fetal Intestine Large	intestine
22	chr8:86153200-86157200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr8:86154000-86157000	Weak transcription	Fetal Intestine Small	intestine
24	chr8:86154600-86157200	Weak transcription	HepG2	liver
25	chr8:86155000-86156800	Weak transcription	Monocytes-CD14+_RO01746	blood

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